Can Be Homozygous or Can Be Compound Heterozygous
CMT2S is caused by autosomal recessive mutations in the IGHMBP2 gene.
CMT2S is exceedingly rare. The underlying gene mutation that is associated with causing CMT2S was first identified only recently, in 2014. There is very little about CMT2S in published literature. What little there is suggests that CMT2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset before 10 years old, with a slowly progressive distal (points farthest away from the center of the body) muscle weakness and atrophy affecting the lower and upper limbs. CMTers who have CMT2S have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., (2014)).